Canonical Allele Identifier: CA3020741

Gene: ADH7

Linked Data

• dbSNP Id: rs146193104
• ExAC: 4:100341788 G / A
• gnomAD v3: 4-99420631-G-A
• gnomAD v4: 4-99420631-G-A
• MyVariant Identifiers: chr4:g.100341788G>A (hg19) ; chr4:g.99420631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420631G>A , CM000666.2:g.99420631G>A	GRCh38
NC_000004.11:g.100341788G>A , CM000666.1:g.100341788G>A	GRCh37
NC_000004.10:g.100560811G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.727C>T MANE Select	ENSP00000414254.2:p.Pro243Ser
ENST00000209665.8:c.763C>T	ENSP00000209665.4:p.Pro255Ser
ENST00000437033.6:c.727C>T	ENSP00000414254.2:p.Pro243Ser
ENST00000476959.5:c.787C>T	ENSP00000420269.1:p.Pro263Ser
ENST00000482593.5:c.556C>T	ENSP00000420613.1:p.Pro186Ser
NM_000673.4:c.763C>T	NP_000664.2:p.Pro255Ser
NM_001166504.1:c.787C>T	NP_001159976.1:p.Pro263Ser
NM_000673.7:c.727C>T MANE Select	NP_000664.3:p.Pro243Ser
NM_001166504.2:c.787C>T	NP_001159976.1:p.Pro263Ser